Canonical Allele Identifier: CA2392190739
Gene: COL18A1 HGNC NCBI
SLC19A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45504512_45504529delinsGGCCCCCCAGGCCCCCCA , CM000683.2:g.45504512_45504529delinsGGCCCCCCAGGCCCCCCA GRCh38
NC_000021.8:g.46924426_46924443delinsGGCCCCCCAGGCCCCCCA , CM000683.1:g.46924426_46924443delinsGGCCCCCCAGGCCCCCCA GRCh37
NC_000021.7:g.45748854_45748871delinsGGCCCCCCAGGCCCCCCA NCBI36
NG_028278.2:g.63615_63632delinsTGGGGGGCCTGGGGGGCC

Transcript Alleles

HGVS Amino-acid change
ENST00000355480.10:c.3364_3381delinsGGCCCCCCAGGCCCCCCA (COL18A1) ENSP00000347665.5:p.Gly1122=
ENST00000651438.1:c.2824_2841delinsGGCCCCCCAGGCCCCCCA (COL18A1) MANE Select ENSP00000498485.1:p.Gly942=
ENST00000342220.9:c.865_882delinsGGCCCCCCAGGCCCCCCA (COL18A1) ENSP00000339118.5:p.Gly289=
ENST00000355480.9:c.3364_3381delinsGGCCCCCCAGGCCCCCCA (COL18A1) ENSP00000347665.5:p.Gly1122=
ENST00000359759.8:c.4069_4086delinsGGCCCCCCAGGCCCCCCA (COL18A1) ENSP00000352798.4:p.Gly1357=
ENST00000400337.6:c.2824_2841delinsGGCCCCCCAGGCCCCCCA (COL18A1) ENSP00000383191.2:p.Gly942=
ENST00000417954.5:c.498-5917_498-5900delinsTGGGGGGCCTGGGGGGCC (SLC19A1)
ENST00000567670.5:c.1294-5917_1294-5900delinsTGGGGGGCCTGGGGGGCC (SLC19A1) ENSP00000457278.1:n.1294-5917_1294-5900de...
XM_011529707.1:c.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC (SLC19A1) XP_011528009.1:n.1585-1560_1585-1543delin...
XM_017028445.2:c.1585-1560_1585-1543delinsTGGGGGGCCTGGGGGGCC (SLC19A1) XP_016883934.1:n.1585-1560_1585-1543delin...
NM_001379500.1:c.2824_2841delinsGGCCCCCCAGGCCCCCCA (COL18A1) MANE Select NP_001366429.1:p.Gly942=